Conditions / Genetic
congenital disorder of glycosylation type IIg
info · Genetic
A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1.
Signs and symptoms
- Failure to thrive in infancy
- Moderate intellectual disability
- Hypotonia
- Type II transferrin isoform profile
- Posteriorly rotated ears
- Microcephaly
- Global developmental delay
- Low-set ears
- Upslanted palpebral fissure
- Cerebellar atrophy
Also known as: CDG IIg; CDG2G; CDGII/COG1 cerebrocostomandibular-like syndrome; CDGIIg; Carbohydrate deficient glycoprotein syndrome type IIg